Publications by authors named "Rong Luo"

278 Publications

SAR1B senses leucine levels to regulate mTORC1 signalling.

Nature 2021 Jul 21. Epub 2021 Jul 21.

State Key Laboratory of Membrane Biology, Institute of Molecular Medicine, College of Future Technology, Peking University, Beijing, China.

The mTOR complex 1 (mTORC1) controls cell growth in response to amino acid levels. Here we report SAR1B as a leucine sensor that regulates mTORC1 signalling in response to intracellular levels of leucine. Under conditions of leucine deficiency, SAR1B inhibits mTORC1 by physically targeting its activator GATOR2. In conditions of leucine sufficiency, SAR1B binds to leucine, undergoes a conformational change and dissociates from GATOR2, which results in mTORC1 activation. SAR1B-GATOR2-mTORC1 signalling is conserved in nematodes and has a role in the regulation of lifespan. Bioinformatic analysis reveals that SAR1B deficiency correlates with the development of lung cancer. The silencing of SAR1B and its paralogue SAR1A promotes mTORC1-dependent growth of lung tumours in mice. Our results reveal that SAR1B is a conserved leucine sensor that has a potential role in the development of lung cancer.
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http://dx.doi.org/10.1038/s41586-021-03768-wDOI Listing
July 2021

Cerebral palsy in children born after assisted reproductive technology: a meta-analysis.

World J Pediatr 2021 Jul 20. Epub 2021 Jul 20.

Department of Pediatrics, West China Second University Hospital, Sichuan University, 20 South Renmin Road 3rd Section, Wuhou District, Chengdu 610041, China.

Background: Several studies have assessed the association between cerebral palsy (CP) and assisted reproductive technology (ART), but the results remain controversial. We conducted a meta-analysis to evaluate the risk of CP after ART compared with natural conceptions and to examine CP risk separately in ART singletons, multiples and preterm births.

Methods: Web-based databases (PubMed, Embase, the Cochrane Library, and Web of Science) were searched until November 22, 2020. Studies which compare CP rates after ART with natural conceptions were included. The Newcastle-Ottawa Scale was used to assess the quality of the included studies. Effect estimates were extracted and combined using the fixed-effects or random-effects model depending on the heterogeneity test.

Results: There were nine studies included in the meta-analysis. The included studies were of moderate or high quality. A significantly higher risk of CP [odds ratio (OR) = 2.17, 95% confidence interval (CI) 1.72-2.74] was found in ART children (n = 89,214) compared with naturally conceived children (n = 4,160,745). The significantly higher risk decreased when data were restricted to singletons (OR = 1.36, 95% CI 1.16-1.59) and disappeared when data were restricted to multiples (OR = 1.05, 95% CI 0.86-1.29) or preterm births (OR = 1.53, 95% CI 0.66-3.56). Subgroup and sensitivity analyses indicated that the overall results were robust.

Conclusions: The risk of CP is increased more than two-fold after ART. This increased risk is largely due to increased rates of multiple birth and preterm delivery in ART children.
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http://dx.doi.org/10.1007/s12519-021-00442-zDOI Listing
July 2021

Effects of Erector Spinae Plane Block on Postoperative Pain in Children Undergoing Surgery: A Systematic Review and Meta-Analysis of Randomized Controlled trials.

Paediatr Anaesth 2021 Jul 16. Epub 2021 Jul 16.

Department of Anesthesiology of West China Hospital, Sichuan University, Chengdu, Sichuan, China.

Background: The erector spinae plane block (ESPB) is a novel regional anesthetic technique that is gaining popularity in pediatrics. However, the efficacy of ESPB in children is unclear. The aim of the systematic review and meta-analysis was to investigate effects of ESPB on postoperative pain relief in children.

Methods: We searched MEDLINE, Cochrane Library, EMBASE, China National Knowledge Infrastructure, and Wan fang databases for randomized controlled trials that compared ESPB with no block or other types of block in pediatric patients undergoing surgeries. The primary outcomes were pain intensity at rest within 24 hours postoperatively and the number of patients requiring rescue analgesics. Data were analyzed using the fixed- or random-effects model, depending on whether the heterogeneity tested by the I statistic was >30%. We assessed the quality of evidence for the outcomes using the Grading of Recommendations, Assessment, Development and Evaluation method.

Results: Seven randomized controlled trials involving 379 patients were reviewed. Compared with no block, ESPB slightly reduced the pain scores at 0 h (standardized mean difference [SMD]: -1.07; 95% confidence interval [CI]: -1.60 to -0.54; I =52%), 6 h (SMD: -0.82; 95% CI: -1.39 to -0.25; I =79%) postoperatively at rest and significantly reduced the need for rescue analgesics (odds ratio 0.09; 95% CI: 0.04 to 0.21; I =16%). One trial demonstrated the analgesic effect of ESPB was similar to a quadratus lumborum block, while another trial demonstrated the analgesic effect of ESPB was superior to an ilioinguinal nerve block.

Conclusions: This review provides low-quality evidence that ESPB exhibits superior analgesia compared to no block in children. Due to the limited data, evidence regarding the comparison with other regional blocks remains unclear. Future large-sized and well-designed randomized controlled trials are needed.
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http://dx.doi.org/10.1111/pan.14255DOI Listing
July 2021

Same-day discharge arthroplasty has a higher overall complications rate than fast-track arthroplasty: a systematic review and meta-analysis.

Arch Orthop Trauma Surg 2021 Jun 15. Epub 2021 Jun 15.

Department of Orthopedics, Orthopedic Research Institute, West China Hospital, Sichuan University, 37# Guoxue Road, 610041, Chengdu, Sichuan, People's Republic of China.

Background: Published studies have reported many inconsistent results regarding the comparison of same-day discharge total joint arthroplasty (TJA) and inpatient TJA. More notably, many recent studies comparing same-day discharge TJA with fast-track TJA presented higher rates of complications for same-day discharge TJA, which raises concerns about the safety of same-day discharge TJA.

Methods: We systematically searched the MEDLINE, Embase, and Cochrane Central Register of Controlled Trials databases up to June 2020 for studies comparing mortality, readmission, and complications in same-day discharge and inpatient total hip or knee arthroplasty. Studies that used inpatient TJA as the control could be further divided into fast-track inpatient TJA (length of stay [LOS] ≤ 2 days) and traditional inpatient TJA (no restrictions on LOS). Relative risks were pooled to compare the outcomes of the same-day discharge group and the control group.

Results: According to selection criteria and quality assessment, 14 studies including 222,766 cases were identified. There was no significant difference in the risk of mortality (RR = 1.42, CI [0.67, 3.01]) or readmission (RR = 0.93, CI [0.79, 1.10]) between same-day discharge TJA and inpatient TJA. Compared with fast-track TJA, the rate of overall complications in same-day discharge TJA was significantly higher (RR = 1.67, CI [1.45, 1.93]), while the rates of overall complications were similar between same-day discharge and traditional inpatient TJA (RR = 0.83, CI [0.67, 1.03]).

Conclusion: The overall safety of same-day discharge TJA is satisfactory; however, more complications were detected in same-day discharge TJA than that in fast-track TJA. Complications in same-day discharge TJA might be underestimated in some previous studies taking long-staying inpatient TJA as control. Being more cautious about complications is necessary in the care of same-day discharge TJA, and extensive prospective studies are needed to explore the optimized option that weighs both cost and complications.
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http://dx.doi.org/10.1007/s00402-021-03883-3DOI Listing
June 2021

The various cost of endoscopic surveillance may affect the follow-up endpoint identified by cost-benefit analysis in Barrett's esophagus patients around the world.

Gastroenterology 2021 Jun 11. Epub 2021 Jun 11.

Department of Gastroenterology & Hepatology, West China Hospital, Sichuan University, Chengdu 610041, Sichuan, China; Sichuan University-Oxford University Huaxi Gastrointestinal Cancer Centre, West China Hospital, Sichuan University, Chengdu 610041, Sichuan, China. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2021.06.010DOI Listing
June 2021

Regulates Fatty Acid Metabolism to Ameliorate Liver Lipid Accumulation in NAFLD Mice.

Evid Based Complement Alternat Med 2021 19;2021:6689727. Epub 2021 Mar 19.

Collaborative Innovation Center of Yangtze River Delta Region Green Pharmaceuticals, No. 18, Chaowang Road, Xiacheng District, Zhejiang University of Technology, Hangzhou, Zhejiang 310014, China.

(DOF) is a traditional Chinese edible and officinal plant. Ultrafine DOF powder (DOFP) can regulate lipids and histopathology in the liver, but the underlying mechanisms of hepatic fatty acid (FA) metabolism, which is generally correlated with the development of nonalcoholic fatty liver disease (NAFLD), remain unclear. The purpose of the present study was to investigate whether DOFP treatment alters hepatic FA metabolism in NAFLD mice by using multidimensional mass spectrometry-based shotgun lipidomics (MDMS-SL) and analyse the underlying mechanisms. A 3-week DOFP treatment prevented lipid deposition and improved hepatic histopathology in NAFLD mice after withdrawal from the high-sucrose, high-fat (HSHF) diet, and it decreased triglyceride and FA content in the liver. Furthermore, the C16 : 0/C14 : 0 and C18 : 1/18 : 0 ratios in FAs were significantly decreased in the DOFP treatment group, and the C20 : 4/C20 : 3 and C22 : 4/C22 : 3 ratios were increased, and saturated FA was inhibited. Additionally, DOFP treatment significantly increased the content of two FA -oxidation-related proteins (carnitine palmitoyltransferase 1- and acyl-coenzyme A oxidase 1). It also decreased the content of a FA synthesis-related protein (fatty acid synthase), a FA desaturation-related protein (stearoyl-coenzyme A desaturase-1), and a FA uptake-related protein (fatty acid transport protein 2). Moreover, DOFP treatment improved dysregulated levels of major phospholipids in the livers of model mice. The results of this study confirm that DOFP treatment in NAFLD mice has liver recovery effects by regulating FA metabolism.
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http://dx.doi.org/10.1155/2021/6689727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8189787PMC
March 2021

Minimally invasive internal fixation for unstable pelvic ring fractures: a retrospective study of 27 cases.

J Orthop Surg Res 2021 May 31;16(1):350. Epub 2021 May 31.

Department of Orthopaedics, West China Hospital, Sichuan University, No.37 Guoxue Lane, Chengdu, 610041, Sichuan, People's Republic of China.

Background: This study aimed to evaluate the radiographic and clinical outcomes of anterior subcutaneous internal fixation (INFIX) with or without posterior fixation for the treatment of unstable pelvic fractures.

Methods: Intraoperative blood loss, operation time, and duration of hospital stay were recorded, and fracture union and postoperative complications were evaluated. The fracture reduction quality was evaluated using the Matta score, pelvic deformity index (PDI), and pubic symphyseal width (PSW). In addition, the functional recovery and general quality of life were evaluated using the Majeed score and the 12-Item Short-Form Survey (SF-12), respectively. Furthermore, sacral nerve injury was evaluated using the Gibbons classification.

Results: Twenty-seven patients (14 males and 13 females) with an average age of 37.4 years were followed up for a mean of 22 months. The average operation time, median intraoperative blood loss, and average duration of hospital stay were 129 ± 47 min, 100 mL, and 22 ± 13 days, respectively. All patients achieved bony union with an average union time of 13.3 weeks. Furthermore, the average PDI and PSW were 0.07 ± 0.04 vs. 0.04 ± 0.03 (P = 0.009) and 1.15 ± 1.36 vs. 0.54 ± 0.17 (P = 0.048) before and after the operation, respectively. In 78% of the patients, the Matta or Majeed scores were excellent or good. The SF-12 physical and mental health scores were 45.1 ± 10.2 and 53.2 ± 6.3, respectively. Furthermore, one superficial surgical site infection, one loosening of INFIX, one lateral femoral cutaneous nerve irritation, one femoral nerve injury, and two implant discomforts due to the bar were noted. Among five patients with sacral nerve injuries, four were asymptomatic, and one just had paresthesia at the last follow-up.

Conclusion: INFIX with or without sacroiliac screws can achieve satisfactory radiographic and functional outcomes in the treatment of unstable pelvic ring fractures.

Trial Registration: ChiCTR2000038812 . Registered 04 October 2020. Retrospectively registered.
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http://dx.doi.org/10.1186/s13018-021-02387-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165806PMC
May 2021

Impacts of heavy metals and medicinal crops on ecological systems, environmental pollution, cultivation, and production processes in China.

Ecotoxicol Environ Saf 2021 Aug 25;219:112336. Epub 2021 May 25.

Collaborative Innovation Center of Yangtze River Delta Region Green Pharmaceuticals, Zhejiang University of Technology, Chaowang Road 18, Hangzhou, Zhejiang Province, China. Electronic address:

Heavy metals are widely distributed in the environment due to the natural processes and anthropogenic human activities. Their migration into no contaminated areas contributing towards pollution of the ecosystems e.g. soils, plants, water and air. It is recognized that heavy metals due to their toxicity, long persistence in nature can accumulate in the trophic chain and cause organism dysfunction. Although the popularity of herbal medicine is rapidly increasing all over the world heavy metal toxicity has a great impact and importance on herbal plants and consequently affects the quality of herbal raw materials, herbal extracts, the safety and marketability of drugs. Effective control of heavy metal content in herbal plants using in pharmaceutical and food industries has become indispensable. Therefore, this review describes various important factors such as ecological and environmental pollution, cultivation and harvest of herbal plants and manufacturing processes which effects on the quality of herbal plants and then on Chinese herbal medicines which influence human health. This review also proposes possible management strategies to recover environmental sustainability and medication safety. About 276 published studies (1988-2021) are reviewed in this paper.
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http://dx.doi.org/10.1016/j.ecoenv.2021.112336DOI Listing
August 2021

Beneficial effects of Dendrobium officinale on metabolic hypertensive rats by triggering the enteric-origin SCFA-GPCR43/41 pathway.

Food Funct 2021 Jun 18;12(12):5524-5538. Epub 2021 May 18.

Zhejiang University of Technology, Hangzhou, Zhejiang 310014, PR China.

Given the increasing global trend toward unhealthy lifestyles and dietary decisions, such as "over-consumption of alcohol, and high sugar and fat diets" (ACHSFDs), it is not surprising that metabolic hypertension (MH) is now the most common type of hypertension. There is an urgent, global need for effective measures for the prevention and treatment of MH. Improper diet leads to decreased short-chain fatty acid (SCFA) production in the gut, leading to decreased gastrointestinal function, metabolism, and blood pressure as a result of signaling through G-protein-coupled receptors (GPCRs), ultimately causing MH. Previous studies have suggested that Dendrobium officinale (DO) may improve gastrointestinal function, lower blood pressure, and regulate metabolic abnormalities, but it is not clear whether it acts on MH by increasing SCFA and, if so, how. In this research, it was observed that Dendrobium officinale ultrafine powder (DOFP) could lower blood pressure and improve lipid abnormalities in ACHSFD-induced MH model rats. Moreover, DOFP was found to improve the intestinal flora and increased the SCFA level in feces and serum, as well as increased the expressions of GPCR43/41 and eNOS and the nitric oxide (NO) level. An experiment on isolated aorta rings revealed that DOFP improved the vascular endothelial relaxation function in MH rats, and this effect could be blocked by the eNOS inhibitor l-NAME. These experimental results suggest that DOFP improved the intestinal flora and increased the production, transportation, and utilization of SCFA, activated the intestinal-vascular axis SCFA-GPCR43/41 pathway, improved vascular endothelial function, and finally lowered blood pressure in MH model rats. This research provides a new focus for the mechanism of the effect of DOFP against MH by triggering the enteric-origin SCFA-GPCR43/41 pathway.
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http://dx.doi.org/10.1039/d0fo02890hDOI Listing
June 2021

Systemic Lupus Erythematosus Complicated with Hypertrophic Cardiomyopathy: A Case Report and Literature Review.

Case Rep Cardiol 2021 11;2021:6633085. Epub 2021 Apr 11.

Department of Cardiology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.

A 32-year-old female with systemic lupus erythematosus (SLE) for more than 7 years, and long-term treatment with cyclophosphamide, cyclosporine, methotrexate, and tacrolimus, later found to be combined with hypertrophic cardiomyopathy (HCM) for one year. The patient denied a family history of cardiomyopathy and sudden cardiac death (SCD). Echocardiography suggested that uneven thickening of the left ventricle (LV), mainly in the lower middle segment. Cardiac magnetic resonance (CMR) showed that the walls of the left ventricular (LV) were significantly thickened, as about 21 mm, mainly in the middle and lower segments. Genetic tests showed no known or suspected pathogenic variations were found and no significant enhancement in CMR, so secondary HCM was diagnosed clinically. After symptomatic treatment, the patient was discharged, and long-term follow-up was conducted. The diagnosis of HCM, which combined with SLE or second to usage of tacrolimus, was based on symptoms, echocardiography, and CMR; no endomyocardial biopsies were performed.
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http://dx.doi.org/10.1155/2021/6633085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8055423PMC
April 2021

Reduced circulating exosomal miR-382 predicts unfavorable outcome in non-small cell lung cancer.

Int J Clin Exp Pathol 2021 15;14(4):469-474. Epub 2021 Apr 15.

Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, School of Medicine, University of Electronic Science and Technology of China Chengdu, China.

Circulating microRNAs (miRNAs) have been demonstrated as robust and promising biomarkers for non-small cell lung cancer (NSCLC). Our aim was to determine the significance of serum exosomal miR-382 in NSCLC. Circulating exosomes were collected from 126 patients with NSCLC and 60 normal controls before treatment and one month after surgery. The circulating exosomal miR-382 expression was measured with quantitative RT-PCR (qRT-PCR) in all the participants. Our findings demonstrated that circulating exosomal miR-382 was very reduced in NSCLC. In addition, it showed high accuracy for discriminating NSCLC patients from healthy subjects. Interestingly, serum exosomal miR-382 improved the diagnostic accuracy of carcinoembryonic antigen (CEA). Moreover, its level increased significantly one month following surgical resection. Reduced circulating exosomal miR-382 was positively associated with poor clinical variables. NSCLC cases with lower serum exosomal miR-382 suffered worse overall survival (OS) and serum exosomal miR-382 was independently associated with OS. Taken together, circulating exosomal miR-382 is a robust biomarker for evaluating the progression of NSCLC.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8085833PMC
April 2021

Gut flora and metabolism are altered in epilepsy and partially restored after ketogenic diets.

Microb Pathog 2021 Jun 21;155:104899. Epub 2021 Apr 21.

Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China; Department of Neurology, Shangjin Nanfu Hospital, Chengdu, Sichuan, People's Republic of China. Electronic address:

Objective: The aim of this study was to investigate the composition of the intestinal microbiota and its association with fecal short chain fatty acids (SCFAs) in children with drug refractory epilepsy (DRE) before and after treatment with a ketogenic diet (KD).

Methods: Herein, we conducted a cross-sectional study of 12 children with DRE and 12 matched healthy controls to compare the changes in fecal microbiomes and SCFAs. Disease cohort also underwent analysis before and after 6 months of KD treatment.

Results: A higher microbial alpha diversity and a significant increase in Actinobacteria at the phylum level and Enterococcus, Anaerostipes, Bifidobacterium, Bacteroides, and Blautia at the genus level were observed in the children with DRE. The abundance of the eight epileptic-associated genera was reversed after six months of KD treatment with decreases in Bifidobacterium, Akkermansia, Enterococcaceae and Actinomyces and increases in Subdoligranulum, Dialister, Alloprevotella (p < 0.05). In particular, we identified some taxa that were more prevalent in patients with an inadequate response to KD than in those with an adequate response. Further, a significant correlation was observed between the change in the microbiome genera after KD treatment. The SCFA content in the fecal after 6 months of KD treatment increased and was highly correlated with the gut bacteria.

Significances: Dysbiosis of the microbiome could be involved in the pathogenesis of DRE in children, which can be relieved by a KD to a large extent. Gut microbiota and microbial metabolism could contribute to the antiseizure effect of KD.
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http://dx.doi.org/10.1016/j.micpath.2021.104899DOI Listing
June 2021

Case Report: Variants of Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review.

Front Pediatr 2021 18;9:641841. Epub 2021 Feb 18.

Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

O'Donnell-Luria-Rodan syndrome was recently identified as an autosomal dominant systemic disorder caused by variants in . It is characterized by global developmental delay, some patients also exhibit autism, seizures, hypotonia, and/or feeding difficulties. Whole-exome sequencing of family trios were performed for two independent children with unexplained recurrent seizures and developmental delay. Both cases were identified as having variants in . We also collected and summarized the clinical data and diagnosed them with O'Donnell-Luria-Rodan syndrome. Structural-prediction programs were used to draw the variants' locations. A 186 G>A synonymous variant [NM_182931.3:exon4: c.186G>A (p.Ala62=)] was found in one family, resulting in alternative splicing acid. A 5417 C>T transition variant [NM_182931.3:exon27: c.5417C>T (p.Pro1806Leu)] was found in another family, resulting in 1806 Pro-to-Leu substitution. Both variants were classified as likely pathogenic according to the ACMG (American College of Medical Genetics and Genomics) guidelines and verified by Sanger sequencing. To date, three studies of O'Donnell-Luria-Rodan syndrome have been reported with heterogeneous clinical manifestations. As a newly recognized inherited systemic disorder, O'Donnell-Luria-Rodan syndrome needs to be paid more attention, especially in gene testing.
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http://dx.doi.org/10.3389/fped.2021.641841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935518PMC
February 2021

Non-obstructive azoospermia: current and future perspectives.

Fac Rev 2021 26;10. Epub 2021 Jan 26.

Department of Urology, Imperial Healthcare NHS Trust, Charing Cross Hospital, Fulham Palace Road, London, United Kingdom.

Infertility affects 1 in 6 couples, and male factor infertility has been implicated as a cause in 50% of cases. Azoospermia is defined as the absence of spermatozoa in the ejaculate and is considered the most extreme form of male factor infertility. Historically, these men were considered sterile but, with the advent of testicular sperm extraction and assisted reproductive technologies, men with azoospermia are able to biologically father their own children. Non-obstructive azoospermia (NOA) occurs when there is an impairment to spermatogenesis. This review describes the contemporary management of NOA and discusses the role of hormone stimulation therapy, surgical and embryological factors, and novel technologies such as proteomics, genomics, and artificial intelligence systems in the diagnosis and treatment of men with NOA. Moreover, we highlight that men with NOA represent a vulnerable population with an increased risk of developing cancer and cardiovascular comorbodities.
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http://dx.doi.org/10.12703/r/10-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7894261PMC
January 2021

The epidemiological status, environmental and genetic factors in the etiology of Keshan disease.

Cardiovasc Endocrinol Metab 2021 Mar 19;10(1):14-21. Epub 2020 Jun 19.

Medical School of the University of Electronic Science and Technology of China.

Keshan disease (KD) is an endemic cardiomyopathy with myocardial lesions for which the precise etiology has not been determined. It was named after the location where it was first identified: Keshan County in China. KD is mainly distributed in a selenium-deficient zone from northeast to southwest China. In recent years, the incidence and prevalence of KD have significantly decreased. Meanwhile, more knowledge was accumulated about the etiology of KD and recent data indicated that genetic factor was involved. In this review, we will first update an overview of the epidemiological status and the environmental and genetic factors involved in this disease.
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http://dx.doi.org/10.1097/XCE.0000000000000214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7901819PMC
March 2021

The Clinical Prognosis of Presence and Location of Late Gadolinium Enhancement by Cardiac Magnetic Resonance Imaging in Patients with Hypertrophic Cardiomyopathy: a Single-Center Cohort Study.

J Cardiovasc Transl Res 2021 Feb 24. Epub 2021 Feb 24.

Cardiac Arrhythmia Center, State Key Laboratory of Cardiovascular Disease, Cardiovascular Institute and Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037, People's Republic of China.

Increasing data have indicated that late gadolinium enhancement (LGE) in cardiac magnetic resonance (CMR) images is associated with the clinical prognosis of hypertrophic cardiomyopathy (HCM). Recently, pioneer studies indicated that the location of LGE in CMR images also had potential predictive value for HCM prognosis. The aim of the present study was to investigate the prognostic value of the location of LGE for HCM. This present cohort study included 557 HCM patients who underwent LGE-CMR imaging, and the LGE location was classified as LGE in interventricular septum only (IVS-LGE) and LGE outside the IVS with or without IVS involvement (other than IVS-LGE). All-cause mortality, cardiovascular mortality/cardiac transplantation, and sudden cardiac death (SCD) were evaluated. During a mean follow-up time of 83.0±37.8 months, there was a significantly higher all-cause mortality, cardiovascular mortality/cardiac transplantation, and SCD in patients with other than IVS-LGE than in those with IVS-LGE. Multivariate Cox regression suggested that other than IVS-LGE were one of independent prognostic predictors. Risk reclassification for prognosis showed that there were no differences between the prediction values of the presence of LGE and the location of LGE. The presence and location of LGE in CMR images are equally independent prognostic predictors of HCM, and other than IVS-LGE location is associated with an adverse clinical prognosis. Prognosis Trial Registration: ChiCTR-ONRC-11001902.
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http://dx.doi.org/10.1007/s12265-021-10107-xDOI Listing
February 2021

The risk-adjusted Charlson comorbidity index as a new predictor of one-year mortality rate in elderly Chinese patients who underwent hip fracture surgery.

Orthop Traumatol Surg Res 2021 05 17;107(3):102860. Epub 2021 Feb 17.

Department of Orthopaedics, West China Hospital, Sichuan University, No. 37, Guoxue Lane, 610041 Chengdu, Sichuan, People's Republic of China. Electronic address:

Introduction: Recently, many studies used the Charlson comorbidity index (CCI) to predict the postoperative mortality rate of elderly patients with hip fractures. However, as a predictor, CCI did not include other preoperative risk factors, resulting in decreasing its predictive value. Therefore, we performed a study to focus on two questions as follows: (1) What is the one-year mortality rate of elderly Chinese patients who underwent surgery for hip fracture? (2) Could risk-adjusted CCI act as a new predictor to predict the one-year mortality rate?

Hypothesis: The risk-adjusted CCI could exhibit a good predictive value for one-year mortality of elderly Chinese patients who underwent surgery for hip fracture.

Material And Methods: This retrospective observational cohort study is based on data collected from July 2012 to April 2016. Patients aged 65 years and older who underwent hip fracture surgery were included. The clinical patient data were obtained, including gender, age, BMI, types of fracture, smoking, injury side, time from injury to surgery, and CCI. Stepwise, multiple logistic regression analysis was used to identify risk factors contributed to the occurrence of postoperative death at one-year follow-up. The risk-adjusted CCI scores of patients were calculated by the formula based on the coefficient regression and independent variables. Receiver operating characteristic (ROC) curve analysis was used for determining the diagnostic value of different factors.

Results: A total of 445 elderly patients who underwent surgery for hip fracture, including 171 males and 274 females, were enrolled in the study cohort. The mean CCI scores of all enrolled patients were 1.20±1.62. Sixty-four patients died within one year, and the one-year mortality rate was 14.38%. The multivariate logistic regression analysis reported that age, time from injury to surgery, and CCI were associated with death after surgical treatment within one year. The risk-adjusted CCI scores of patients=0.099×age (years)+0.355×time from injury to surgery (days)+0.434×CCI scores. The predictive value of the risk-adjusted CCI was highest among these risk predictors, whose AUC value was 0.816.

Discussion: The risk-adjusted Charlson comorbidity index could be used as a guide to predict one-year mortality rate in elderly Chinese patients after the surgical treatment of hip fractures.

Level Of Evidence: III; cohort comparative study.
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http://dx.doi.org/10.1016/j.otsr.2021.102860DOI Listing
May 2021

App-Based Salt Reduction Intervention in School Children and Their Families (AppSalt) in China: Protocol for a Mixed Methods Process Evaluation.

JMIR Res Protoc 2021 Feb 10;10(2):e19430. Epub 2021 Feb 10.

The George Institute for Global Health, Peking University Health Science Center, Beijing, China.

Background: The app-based salt reduction intervention program in school children and their families (AppSalt) is a multicomponent mobile health (mHealth) intervention program, which involves multiple stakeholders, including students, parents, teachers, school heads, and local health and education authorities. The complexity of the AppSalt program highlights the need for process evaluation to investigate how the implementation will be achieved at different sites.

Objective: This paper presents a process evaluation protocol of the AppSalt program, which aims to monitor the implementation of the program, explain its causal mechanisms, and provide evidence for scaling up the program nationwide.

Methods: A mixed methods approach will be used to collect data relating to five process evaluation dimensions: fidelity, dose delivered, dose received, reach, and context. Quantitative data, including app use logs, activity logs, and routine monitoring data, will be collected alongside the intervention process to evaluate the quantity and quality of intervention activities. The quantitative data will be summarized as medians, means, and proportions as appropriate. Qualitative data will be collected through semistructured interviews of purposely selected intervention participants and key stakeholders from local health and education authorities. The thematic analysis technique will be used for analyzing the qualitative data with the support of NVivo 12. The qualitative data will be triangulated with the quantitative data during the interpretation phase to explain the 5 process evaluation dimensions.

Results: The intervention activities of the AppSalt program were initiated at 27 primary schools in three cities since October 2018. We have completed the 1-year intervention of this program. The quantitative data for this study, including app use log, activity logs, and the routine monitoring data, were collected and organized during the intervention process. After completing the intervention, we conducted semistructured interviews with 32 students, 32 parents, 9 teachers, 9 school heads, and 8 stakeholders from local health and education departments. Data analysis is currently underway.

Conclusions: Using mHealth technology for salt reduction among primary school students is an innovation in China. The findings of this study will help researchers understand the implementation of the AppSalt program and similar mHealth interventions in real-world settings. Furthermore, this process evaluation will be informative for other researchers and policy makers interested in replicating the AppSalt program and designing their salt reduction intervention.

International Registered Report Identifier (irrid): DERR1-10.2196/19430.
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http://dx.doi.org/10.2196/19430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7904395PMC
February 2021

Comparison of total joint arthroplasty outcomes between renal transplant patients and dialysis patients-a meta-analysis and systematic review.

J Orthop Surg Res 2020 Dec 9;15(1):590. Epub 2020 Dec 9.

Department of Endocrinology, the People's Hospital of Dazu, Chongqing, 138#Longgang West Road, Longgang Street, Chongqing, 402360, China.

Objectives: End-stage renal disease (ESRD) patients are at an increased risk of needing total joint arthroplasty (TJA); however, both dialysis and renal transplantation might be potential predictors of adverse TJA outcomes. For dialysis patients, the high risk of blood-borne infection and impaired muscular skeletal function are threats to implants' survival, while for renal transplant patients, immunosuppression therapy is also a concern. There is still no high-level evidence in the published literature that has determined the best timing of TJA for ESRD patients.

Methods: A literature search in MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials (up to November 2019) was performed to collect studies comparing TJA outcomes between renal transplant and dialysis patients. Two reviewers independently conducted literature screening and quality assessments with the Newcastle-Ottawa Scale (NOS). After the data were extracted, statistical analyses were performed.

Results: Compared with the dialysis group, a lower risk of mortality (RR = 0.56, Cl = [0.42, 0.73], P < 0.01, I = 49%) and revision (RR = 0.42, CI = [0.30, 0.59], P < 0.01, I = 43%) was detected in the renal transplant group. Different results of periprosthetic joint infection were shown in subgroups with different sample sizes. There was no significant difference in periprosthetic joint infection in the small-sample-size subgroup, while in the large-sample-size subgroup, renal transplant patients had significantly less risk (RR = 0.19, CI = [0.13, 0.23], P < 0.01, I = 0%). For dislocation, venous thromboembolic disease, and overall complications, there was no significant difference between the two groups.

Conclusion: Total joint arthroplasty has better safety and outcomes in renal transplant patients than in dialysis patients. Therefore, delaying total joint arthroplasty in dialysis patients until renal transplantation has been performed would be a desirable option. The controversy among different studies might be partially accounted for that quite a few studies have a relatively small sample size to detect the difference between renal transplant patients and dialysis patients.
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http://dx.doi.org/10.1186/s13018-020-02117-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7724818PMC
December 2020

Restaurant interventions for salt reduction in China: protocol for a randomised controlled trial.

BMJ Open 2020 12 2;10(12):e038744. Epub 2020 Dec 2.

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing, China

Introduction: Salt intake in China is high, and most of it comes from that added by consumers. Nevertheless, recent years have seen a rapid increase in the frequency at which people eat out. The aim of this study is to evaluate the effectiveness of interventions designed for salt reduction in restaurants through a randomised controlled trial in China.

Methods And Analysis: As a randomised controlled trial with restaurants as study subjects, we recruited 192 restaurants from 12 counties of 6 provinces in China. After the baseline survey, restaurants were randomly assigned to intervention or control group. Using social cognitive theory, comprehensive intervention activities were designed to encourage salt reduction in all restaurant foods, and at the same time, to encourage consumers to choose lower salt options when eating out. The interventions will be conducted only in restaurants of the intervention group during the first year. The follow-up assessment will be conducted at the end of the trial. The primary outcome is the change in the average salt content of the five best-selling dishes of the restaurant, as measured by laboratory tests. Secondary outcomes include differences in the monthly use of salt and salty condiments between intervention and control restaurants, and the knowledge, attitude and practice on salt among restaurant consumers.

Ethics And Dissemination: The study was reviewed and approved by the Review Board of the National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention and Queen Mary Research Ethics Committee. Results will be disseminated through presentations, publications and social media.

Trial Registration Number: ChiCTR1800019694; Pre-results.
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http://dx.doi.org/10.1136/bmjopen-2020-038744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7713225PMC
December 2020

Caucasian and Asian difference in role of type 1 diabetes on large-for-gestational-age neonates.

BMJ Open Diabetes Res Care 2020 11;8(2)

OMNI Research Group, Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada

Introduction: Racial differences in the association between type 1 diabetes mellitus (T1DM) and large-for-gestational-age (LGA) neonates remain unclear. The objective of this study was to compare the effect of T1DM on LGA neonates between Caucasian and Asian women.

Research Design And Methods: A population-based retrospective cohort study was conducted among Caucasian and Asian women who had prenatal screening and gave a singleton live birth in an Ontario hospital between April 2015 and March 2018. Multivariable log-binomial regression models were used to estimate the adjusted relative risks (aRRs) and 95% CIs of T1DM on LGA for Caucasian and Asian women. Relative contribution of T1DM to LGA was examined by multivariable logistic regression model, stratified by Caucasian and Asian women.

Results: A total of 232 503 women (69.4% Caucasians and 30.6% Asians) were included in the final analysis. The rate of T1DM was higher in Caucasians (0.5%) than in Asians (0.2%), and the rate of LGA neonates was also higher in Caucasians (11.0%) than in Asians (5.0%). The association between T1DM and LGA in Caucasians (aRR 4.18, 95% CI (3.84 to 4.55)) was more robust than that in Asians (aRR 2.11, 95% CI (1.24 to 3.59)). T1DM was the fourth strongest contributor to LGA in Caucasians, while T1DM was the seventh contributor to LGA in Asians.

Conclusions: T1DM plays a more substantial role in LGA among Caucasians than Asians. Clinicians should be aware of the Caucasian-Asian differences of effects of T1DM on LGA when developing pregnancy management strategies.
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http://dx.doi.org/10.1136/bmjdrc-2020-001746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678233PMC
November 2020

Strategies in infertile azoospermic patients with negative microdissection testicular sperm extraction surgery.

Turk J Urol 2020 Oct 23. Epub 2020 Oct 23.

Department of Urology, Imperial Healthcare NHS Trust, Charing Cross Hospital, London, UK.

Non-obstructive azoospermia is reported to affect 1 in 100 men, and despite advances in surgical practice, the succesful sperm retrieval rate for microdissection testicular sperm extraction surgery (mTESE) is only 46%. This article reviews the potential causes for mTESE failure and provides a management strategy to guide the clinicians on how to treat this challenging cohort of patients.
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http://dx.doi.org/10.5152/tud.2020.20435DOI Listing
October 2020

GPR56/ADGRG1 is a platelet collagen-responsive GPCR and hemostatic sensor of shear force.

Proc Natl Acad Sci U S A 2020 11 23;117(45):28275-28286. Epub 2020 Oct 23.

Department of Pharmacology, University of Michigan Medical Center, Ann Arbor, MI 48109;

Circulating platelets roll along exposed collagen at vessel injury sites and respond with filipodia protrusion, shape change, and surface area expansion to facilitate platelet adhesion and plug formation. Various glycoproteins were considered to be both collagen responders and mediators of platelet adhesion, yet the signaling kinetics emanating from these receptors do not fully account for the rapid platelet cytoskeletal changes that occur in blood flow. We found the free N-terminal fragment of the adhesion G protein-coupled receptor (GPCR) GPR56 in human plasma and report that GPR56 is the platelet receptor that transduces signals from collagen and blood flow-induced shear force to activate G protein 13 signaling for platelet shape change. mice have prolonged bleeding, defective platelet plug formation, and delayed thrombotic occlusion. Human and mouse blood perfusion studies demonstrated GPR56 and shear-force dependence of platelet adhesion to immobilized collagen. Our work places GPR56 as an initial collagen responder and shear-force transducer that is essential for platelet shape change during hemostasis.
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http://dx.doi.org/10.1073/pnas.2008921117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7668045PMC
November 2020

Effects of High-Dose Rosuvastatin on Ventricular Remodelling and Cardiac Function in ST-Segment Elevation Myocardial Infarction.

Drug Des Devel Ther 2020 23;14:3891-3898. Epub 2020 Sep 23.

Department of Cardiology, Qingpu Medical Center, Zhongshan Hospital, Fudan University, Shanghai, People's Republic of China.

Objective: To investigate the effects of high-dose rosuvastatin on ventricular remodelling and cardiac function in ST-segment elevation myocardial infarction (STEMI).

Materials And Methods: From January 2017 to March 2019, the clinical data of 93 patients with STEMI were collected and analysed, with 46 cases in the conventional-dose group (rosuvastatin, 10 mg/d) and 47 cases in the high-dose group (rosuvastatin, 20 mg/d). Blood lipid (TC, TG, LDL-C and HDL-C), serum inflammatory markers (hs-CRP, IL-6, TNF-α and ICAM-1), ventricular remodelling markers (NT-pro BNP, MMP-9, TIMP-4 and Gal-3) and indicators of cardiac function (LVESD, LVESD, LVESV, LVEDV, IVST and LVEF) were collected from all patients at the time of admission and 8 weeks after rosuvastatin treatment.

Results: After treatment with rosuvastatin for 8 weeks, compared with those in conventional-dose group, the levels of TC, TG, LDL-C, hs-CRP, IL-6, TNF-α, ICAM-1, NT-pro BNP, MMP-9 and Gal-3 in the high-dose group decreased significantly (P<0.05), while the increase of HDL-C and TIMP-4 levels was more obvious (P<0.05) than that in the conventional-dose group. Moreover, LVEF was significantly higher (P<0.05) and LVESD, LVESD, LVESV, LVEDV and IVST were significantly lower (P< 0.05) after treatment than before treatment in both groups. The improvement of cardiac ultrasound results in the high-dose group was more significant than that in the conventional-dose group (P< 0.05).

Conclusion: This study suggests that high-dose rosuvastatin was better than conventional-dose rosuvastatin for improving blood lipid metabolism, reducing the inflammatory response, and preventing and treating ventricular remodelling and myocardial fibrosis, indicating that high-dose rosuvastatin had stronger therapeutic effect on STEMI than conventional-dose rosuvastatin.
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http://dx.doi.org/10.2147/DDDT.S254948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7520152PMC
July 2021

LncRNA H19 inhibits high glucose-induced inflammatory responses of human retinal epithelial cells by targeting miR-19b to increase SIRT1 expression.

Kaohsiung J Med Sci 2021 Feb 6;37(2):101-110. Epub 2020 Oct 6.

Department of Ophthalmology, Jiangxi Provincial People's Hospital Affiliated to Nanchang University, Nanchang, China.

Diabetic retinopathy (DR) is a common complication of diabetes mellitus. Inflammatory responses play crucial roles in the progress of DR. Long noncoding RNA (lncRNAs) and microRNAs (miRNAs) are key signal transduction molecules in retina, and tightly connected with DR occurrence and development. Our study aimed to explore the functions of lncRNA H19, miR-19b and silence information regulator factor related enzymes 1 (SIRT1) in the progress of DR. Retinal pigment epithelial cells (ARPE-19) were used to build high-glucose (HG) model. Quantitative real-time PCR (qPCR) was performed to detect expression of H19, miR-19b and SIRT1 at normal glucose (NG) and HG conditions. And western blotting was performed to test protein level of SIRT1. QPCR and enzyme-linked immunosorbent assay were performed to detect expression of inflammatory cytokines. Finally, the interactions among H19, miR-19b and SIRT1 were determined by dual-luciferase reporter assay. Our results showed that lncRNA H19 and SIRT1 were reduced, while miR-19b was increased in ARPE-19 cells with HG condition. MiR-19b positively regulated the expression of inflammatory cytokines, including TNF-α, IL-1β and IL-6. Inhibition of miR-19b and overexpression of H19 inhibited the expression of inflammatory cytokines, such as TNF-α, IL-1β and IL-6, while knockdown of SIRT1 reversed their effects on inflammatory cytokines. Furthermore, overexpression of miR-19b reversed the inhibitory effects of overexpression of H19 on inflammatory cytokines. Importantly, H19 targeted miR-19b to downregulate miR-19b expression. Furthermore, miR-19b bound to SIRT1 and declined SIRT1 expression. H19/miR-19b/SIRT1 axis plays a key role of HG-induced inflammatory response in ARPE-19 cells, which provides new targets for DR treatment.
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http://dx.doi.org/10.1002/kjm2.12302DOI Listing
February 2021

Twenty-Four-Hour Urinary Sodium and Potassium Excretion and Their Associations With Blood Pressure Among Adults in China: Baseline Survey of Action on Salt China.

Hypertension 2020 11 28;76(5):1580-1588. Epub 2020 Sep 28.

Chinese Center for Disease Control and Prevention, Beijing (Xinhua Li).

This study aimed to assess current level of sodium and potassium intake and their associations with blood pressure (BP) using the 24-hour urinary data in a large sample of China. Data from participants aged 18 to 75 years were collected as the baseline survey of Action on Salt China in 2018. Of 5454 adults, 5353 completed 24-hour urine collection. The average sodium, potassium excretion, and sodium-to-potassium molar ratio were 4318.1±1814.1 mg/d (equivalent to 11.0±4.6 g/d of salt), 1573.7±627.1 mg/d, and 5.0±2.1, respectively. After adjusting for potential confounding factors and correcting for regression dilution, each 1000-mg increase in sodium excretion was associated with increased systolic BP (1.32 mm Hg [95% CI, 0.92-1.81]) and diastolic BP (0.34 mm Hg [95% CI, 0.09-0.60]). Each 1000-mg increase in potassium excretion was inversely associated with systolic BP (-3.19 mm Hg [95% CI, -4.38 to -2.20]) and diastolic BP (-1.56 mm Hg [95% CI, -2.29 to -0.90]). Each unit increase in sodium-to-potassium molar ratio was associated with an increase of systolic BP by 1.21 mm Hg (95% CI, 0.91-1.60) and diastolic BP by 0.44 mm Hg (95% CI, 0.24-0.64). The relationships between sodium and BP mostly increase with the rise of BP quantiles. Potassium shows the opposite trend. The current sodium intake in Chinese adults remains high and potassium intake is low. Sodium and sodium-to-potassium ratio were positively associated with BP, whereas potassium was inversely associated with BP. Registration- URL: https://tinyurl.com/vdr8rpr; Unique identifier: ChiCTR1800017553. URL: https://tinyurl.com/w8c7x3w; Unique identifier: ChiCTR1800016804. URL: https://tinyurl.com/s3ajldw; Unique identifier: ChiCTR1800018119.
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http://dx.doi.org/10.1161/HYPERTENSIONAHA.120.15238DOI Listing
November 2020

Environmental Impacts on Hardware-Based Link Quality Estimators in Wireless Sensor Networks.

Sensors (Basel) 2020 Sep 17;20(18). Epub 2020 Sep 17.

School of Electrical and Electronic Engineering, Chongqing University of Technology, Chongqing 400054, China.

Hardware-based link quality estimators (LQEs) in wireless sensor networks generally use physical layer parameters to estimate packet reception ratio, which has advantages of high agility and low overhead. However, many existing studies didn't consider the impacts of environmental changes on the applicability of these estimators. This paper compares the performance of typical hardware-based LQEs in different environments. Meanwhile, aiming at the problematic Signal-to-Noise Ratio () calculation used in existing studies, a more reasonable calculation method is proposed. The results show that it is not accurate to estimate the packet reception rate using the communication distance, and it may be useless when the environment changes. Meanwhile, the fluctuation range of the Received Signal Strength Indicator () and will be affected and that of Link Quality Indicator (LQI) is almost unchanged. The performance of based LQEs may degrade when the environment changes. Fortunately, this degradation is mainly caused by the change of background noise, which could be compensated conveniently. The best environmental adaptability is gained by LQI and based LQEs, as they are almost unaffected when the environment changes. Moreover, LQI based LQEs are more accurate than based ones in the transitional region. Nevertheless, compared with , the fluctuation range of LQI is much larger, which needs a larger smoothing window to converge. In addition, the calculation of LQI is typically vendor-specific. Therefore, the tradeoff between accuracy, agility, and convenience should be considered in practice.
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http://dx.doi.org/10.3390/s20185327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7571096PMC
September 2020

Nonalcoholic fatty liver disease impacts the control of the international normalized ratio in patients with atrial fibrillation.

Ann Transl Med 2020 Aug;8(16):1008

Clinical Research & Innovation Unit, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Background: It is unclear whether the therapeutic effect of warfarin in patients with atrial fibrillation (AF) and normal liver function differs between those with and without nonalcoholic fatty liver disease (NAFLD). With this in mind, we aimed to evaluate the impact of NAFLD on the international normalized ratio (INR) control in warfarin-treated AF patients with normal liver function.

Methods: We enrolled 600 AF patients aged 28-94 (median 68) with normal liver function who were receiving daily warfarin therapy, 172 with NAFLD and 428 without. The INR and INR/warfarin dosage rate were measured. Four nested multivariable linear regression models adjusted for potential confounders were used to assess whether there were differences in INR and INR/warfarin dose rate between patients with and without NAFLD.

Results: The INR, the percentage of patients with INR within the target range of 2.0-3.0, and the INR/warfarin dose rate were lower in patients with NAFLD than those without. In the maximally adjusted multivariable linear regression models, the INR in NAFLD patients (0.22±0.07, P=0.003) was lower than in non-NAFLD patients, and the INR/warfarin dose rate was slightly lower (0.09±0.06, P=0.10) in NAFLD than in non-NAFLD patients.

Conclusions: Our findings suggest that among AF patients, the therapeutic effect of warfarin is impaired in patients who have NAFLD. Therefore, a slightly higher or personally optimized dosage of warfarin might be necessary among AF patients with NAFLD in order to achieve the INR target range.
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http://dx.doi.org/10.21037/atm-20-5387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7475506PMC
August 2020

A Novel Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular Dystrophy.

Case Rep Genet 2020 24;2020:2071738. Epub 2020 Aug 24.

School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, China.

This case reports a novel hemizygous frameshift mutation (c.487delA, p.Ser163fs) in twins of an Emery-Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.
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http://dx.doi.org/10.1155/2020/2071738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463389PMC
August 2020
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